Links from Gene
Items: 1 to 20 of 1491
3.
rs1489906335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:127589905
(GRCh38)
7:127229959
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127589904:A:C
- Gene:
- ARF5 (Varview), LOC105375489 (Varview), LOC105375490 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489738157 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:127590977
(GRCh38)
7:127231031
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127590976:G:A,NC_000007.14:127590976:G:C
- Gene:
- ARF5 (Varview), LOC105375489 (Varview), LOC105375490 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489511845 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:127589878
(GRCh38)
7:127229932
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127589877:G:A
- Gene:
- ARF5 (Varview), LOC105375489 (Varview), LOC105375490 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
6.
rs1489404979 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:127587820
(GRCh38)
7:127227874
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127587819:A:T
- Gene:
- ARF5 (Varview), LOC105375490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1488576815 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AATT>-
[Show Flanks]
- Chromosome:
- 7:127587398
(GRCh38)
7:127227452
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127587397:AATT:
- Gene:
- ARF5 (Varview), GCC1 (Varview), LOC105375490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1488540220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:127586898
(GRCh38)
7:127226952
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127586897:G:A
- Gene:
- ARF5 (Varview), GCC1 (Varview), LOC105375490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.009346/2
(Vietnamese)
- HGVS:
9.
rs1487555896 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:127588966
(GRCh38)
7:127229020
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127588965:G:A
- Gene:
- ARF5 (Varview), LOC105375490 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1487085749 has merged into rs1003540058 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCC>-,CC,CCCC
[Show Flanks]
- Chromosome:
- 7:127588434
(GRCh38)
7:127228488
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127588430:CCCCCC:CCC,NC_000007.14:127588430:CCCCCC:CCCCC,NC_000007.14:127588430:CCCCCC:CCCCCCC
- Gene:
- ARF5 (Varview), LOC105375490 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.127588434_127588436del, NC_000007.14:g.127588436del, NC_000007.14:g.127588436dup, NC_000007.13:g.127228488_127228490del, NC_000007.13:g.127228490del, NC_000007.13:g.127228490dup, NM_001662.4:c.-65_-63del, NM_001662.4:c.-63del, NM_001662.4:c.-63dup, NM_001662.3:c.-65_-63del, NM_001662.3:c.-63del, NM_001662.3:c.-63dup
12.
rs1485368272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:127591567
(GRCh38)
7:127231621
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127591566:G:A
- Gene:
- ARF5 (Varview), LOC105375489 (Varview), LOC105375490 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
13.
rs1485348286 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:127587298
(GRCh38)
7:127227352
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127587297:G:A
- Gene:
- ARF5 (Varview), GCC1 (Varview), LOC105375490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
14.
rs1485086979 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:127589328
(GRCh38)
7:127229382
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127589327:A:G
- Gene:
- ARF5 (Varview), LOC105375490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1484866129 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:127589179
(GRCh38)
7:127229233
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127589178:A:G
- Gene:
- ARF5 (Varview), LOC105375490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1484393504 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:127588240
(GRCh38)
7:127228294
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127588239:A:T
- Gene:
- ARF5 (Varview), LOC105375490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1483120568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:127587513
(GRCh38)
7:127227567
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127587512:C:T
- Gene:
- ARF5 (Varview), GCC1 (Varview), LOC105375490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000094/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1482536747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:127588510
(GRCh38)
7:127228564
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127588509:C:G,NC_000007.14:127588509:C:T
- Gene:
- ARF5 (Varview), LOC105375490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000007/1
(GnomAD_exomes)
G=0.000563/1
(Korea1K)
- HGVS:
20.
rs1481618932 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:127591936
(GRCh38)
7:127231990
(GRCh37)
- Canonical SPDI:
- NC_000007.14:127591935:T:C
- Gene:
- ARF5 (Varview), FSCN3 (Varview), LOC105375489 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD_exomes)
- HGVS: